"GeneDx"[submitter] AND "GNG3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 1293294	NM_001122955.4(BSCL2):c.87+64_87+66del	BSCL2, GNG3 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1699870	NM_001122955.4(BSCL2):c.78C>G (p.Asp26Glu)	HNRNPUL2-BSCL2, BSCL2 +1 more (D26E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 429873	NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)	BSCL2, GNG3 +1 more (Q21L)	Single nucleotide variant (genic upstream transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 257498	NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu)	BSCL2, GNG3 +1 more (D20E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 3343293	NM_001122955.4(BSCL2):c.58G>C (p.Asp20His)	BSCL2, GNG3 +1 more (D20H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1186485	NM_001122955.4(BSCL2):c.-88C>T	BSCL2, GNG3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1261154	NM_001122955.4(BSCL2):c.-172T>C	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 668736	NM_032667.6(BSCL2):c.-1574T>G	GNG3, HNRNPUL2-BSCL2 +1 more	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1198651	NM_001122955.2(BSCL2):c.-525C>T	HNRNPUL2-BSCL2, BSCL2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250306	NM_001386027.1(BSCL2):c.-129-457C>G	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1240787	NM_001386027.1(BSCL2):c.-129-653G>A	BSCL2, GNG3 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321543	NM_001386027.1(BSCL2):c.-129-861C>T	BSCL2, GNG3 +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign